-
1
-
-
0034944010
-
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
-
Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001; 28: 218-219
-
(2001)
Nat Genet
, vol.28
, pp. 218-219
-
-
Betz, R.C.1
Schoser, B.G.2
Kasper, D.3
Ricker, K.4
Ramirez, A.5
Stein, V.6
-
2
-
-
13144306058
-
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations 1
-
Kubisch C, Ketelsen UP, Goebel I, Omran H. Autosomal recessive rippling muscle disease with homozygous CAV3 mutations 1. Ann Neurol 2005; 57: 303-304
-
(2005)
Ann Neurol
, vol.57
, pp. 303-304
-
-
Kubisch, C.1
Ketelsen, U.P.2
Goebel, I.3
Omran, H.4
-
3
-
-
17744397526
-
Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers
-
Lamb GD. Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers. Muscle Nerve 2005; 31: 652-658
-
(2005)
Muscle Nerve
, vol.31
, pp. 652-658
-
-
Lamb, G.D.1
-
4
-
-
33746222869
-
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
-
Muller JS, Piko H, Schoser BG, Schlotter-Weigel B, Reilich P, Gurster S et al. Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. Neuromuscul Disord 2006; 16: 432-436
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 432-436
-
-
Muller, J.S.1
Piko, H.2
Schoser, B.G.3
Schlotter-Weigel, B.4
Reilich, P.5
Gurster, S.6
-
5
-
-
33744940868
-
Rippling muscle disease 9
-
Roberts HL, Day B, Lo H, McLean C, North K. Rippling muscle disease 9. J Clin Neurosci 2006; 13: 576-578
-
(2006)
J Clin Neurosci
, vol.13
, pp. 576-578
-
-
Roberts, H.L.1
Day, B.2
Lo, H.3
McLean, C.4
North, K.5
-
6
-
-
0036656708
-
Rippling muscle disease in childhood
-
Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W. Rippling muscle disease in childhood. J Child Neurol 2002; 17: 483-490
-
(2002)
J Child Neurol
, vol.17
, pp. 483-490
-
-
Schara, U.1
Vorgerd, M.2
Popovic, N.3
Schoser, B.G.4
Ricker, K.5
Mortier, W.6
-
7
-
-
19944433421
-
Immune-mediated rippling muscle disease
-
Schulte-Mattler WJ, Kley RA, Rothenfusser-Korber E, Bohm S, Bruning T, Hackemann J et al. Immune-mediated rippling muscle disease. Neurology 2005; 64: 364-367
-
(2005)
Neurology
, vol.64
, pp. 364-367
-
-
Schulte-Mattler, W.J.1
Kley, R.A.2
Rothenfusser-Korber, E.3
Bohm, S.4
Bruning, T.5
Hackemann, J.6
-
8
-
-
0037154197
-
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
-
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y et al. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002; 58: 323-325
-
(2002)
Neurology
, vol.58
, pp. 323-325
-
-
Tateyama, M.1
Aoki, M.2
Nishino, I.3
Hayashi, Y.K.4
Sekiguchi, S.5
Shiga, Y.6
-
9
-
-
0016693399
-
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen
-
Torbergsen T. A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. Acta Neurol Scand 1975; 51: 225-232
-
(1975)
Acta Neurol Scand
, vol.51
, pp. 225-232
-
-
Torbergsen, T.1
-
10
-
-
0036259847
-
Rippling muscle disease: A review
-
Torbergsen T. Rippling muscle disease: a review. Muscle Nerve 2002; (Suppl 11): S103-S107
-
(2002)
Muscle Nerve
, Issue.SUPPL. 11
-
-
Torbergsen, T.1
-
11
-
-
4344624269
-
-
Bergh PY Van den, Gerard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG. Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. J Neurol Neurosurg Psychiatry 2004; 75: 1349-1351
-
Bergh PY Van den, Gerard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG. Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. J Neurol Neurosurg Psychiatry 2004; 75: 1349-1351
-
-
-
-
12
-
-
0033594454
-
Phenotypic variability in rippling muscle disease
-
Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W. Phenotypic variability in rippling muscle disease. Neurology 1999; 52: 1453-1459
-
(1999)
Neurology
, vol.52
, pp. 1453-1459
-
-
Vorgerd, M.1
Bolz, H.2
Patzold, T.3
Kubisch, C.4
Malin, J.P.5
Mortier, W.6
-
13
-
-
0035956556
-
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation
-
Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA et al. A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology 2001; 57: 2273-2277
-
(2001)
Neurology
, vol.57
, pp. 2273-2277
-
-
Vorgerd, M.1
Ricker, K.2
Ziemssen, F.3
Kress, W.4
Goebel, H.H.5
Nix, W.A.6
-
14
-
-
1342267006
-
Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
-
Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 2004; 62: 538-543
-
(2004)
Neurology
, vol.62
, pp. 538-543
-
-
Woodman, S.E.1
Sotgia, F.2
Galbiati, F.3
Minetti, C.4
Lisanti, M.P.5
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